المؤلفون: Chunyu Gu, Xiaowei Lu, Jinhui Ma, Linjie Pu, Xiufang Zhi, Jianbo Shu, Dong Li, Chunquan Cai

المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: DEPDC5, Focal epilepsy, Whole exome sequencing, FFEVF, Case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/e6660956ec24496f986017119887fa9e

المؤلفون: Gu, Chunyu^{Aff1, Aff2}, Lu, Xiaowei^{Aff1, Aff3}, Ma, Jinhui^{Aff1, Aff4}, Pu, Linjie^{Aff1, Aff2}, Zhi, Xiufang^{Aff1, Aff2}, Shu, Jianbo^{Aff1, Aff5, Aff6}, Li, Dong^{Aff1, Aff3, IDs12887022035158_cor7}, Cai, Chunquan^{Aff1, Aff5, Aff6, Aff7, IDs12887022035158_cor8}

المصدر: BMC Pediatrics. 22(1)

المؤلفون: Antonio Gambardella, Isabelle An-Gourfinkel, Peter De Jonghe, Philippe Couarch, Romina Combi, Ortrud K. Steinlein, Julitta de Bellescize, Eric LeGuern, Dorothée Ville, Stylianos E. Antonarakis, Erwin Fosselle, Mihaela Vlaicu, Emeline Mundwiller, Gaetan Lesca, Sarah Weckhuysen, Michel Baulac, A Suls, Stéphanie Baulac, Saeko Ishida, Vincent Navarro, Fabienne Picard, Maryline Vasselon Raina, Periklis Makrythanasis, Luigi Ferini-Strambi, Christel Depienne

المساهمون: Picard, F, Makrythanasis, P, Navarro, V, Ishida, S, de Bellescize, J, Ville, D, Weckhuysen, S, Fosselle, E, Suls, A, De Jonghe, P, Vasselon Raina, M, Lesca, G, Depienne, C, An Gourfinkel, I, Vlaicu, M, Baulac, M, Mundwiller, E, Couarch, P, Combi, R, FERINI STRAMBI, Luigi, Gambardella, A, Antonarakis, Se, Leguern, E, Steinlein, O, Baulac, S., Ferini Strambi, L, Antonarakis, S, Baulac, S

المصدر: Neurology
Neurology, Vol. 82, No 23 (2014) pp. 2101-2106

مصطلحات موضوعية: Adult, Male, Proband, Adolescent, Chromosomes, Human, Pair 22, Epilepsy, Frontal Lobe, media_common.quotation_subject, Nonsense, Nonsense mutation, Drug Resistance, Autosomal dominant nocturnal frontal lobe epilepsy, Biology, medicine.disease_cause, ADNFLE, FFEVF, nicotinic receptor, focal epilepsies, autosomal dominant, mTOR, Epilepsy, medicine, Humans, ddc:576.5, Exome, Child, Exome sequencing, Aged, media_common, Genetics, Mutation, GTPase-Activating Proteins, BIO/13 - BIOLOGIA APPLICATA, Middle Aged, medicine.disease, DEPDC5, ddc:616.8, Pedigree, Europe, Repressor Proteins, Phenotype, Child, Preschool, Female, Human medicine, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c67286d7b278713a390bbd7868a0024
https://doi.org/10.1212/wnl.0000000000000488

المساهمون: Klein, Karl Martin, O'Brien, Terence J, Praveen, Kavita, Heron, Sarah E, Mulley, John C, Foote, Simon, Berkovic, Samuel F, Scheffer, Ingrid E

مصطلحات موضوعية: focal epilepsy, chromosome 22q12, FFEVF, genetic epilepsy, FPEVF

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1231::90e5397515519d00df0faa62d15eed78
https://hdl.handle.net/1959.8/128573

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

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تسجيل الدخول للوصول الكامل.

مصطلحات الفهرس: ADNFLE, FFEVF, nicotinic receptor, focal epilepsies, autosomal dominant, mTOR, BIO/13 - BIOLOGIA APPLICATA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/51556
info:eu-repo/semantics/altIdentifier/pmid/24814846
info:eu-repo/semantics/altIdentifier/wos/WOS:000342819500013
volume:82
firstpage:2101
lastpage:2106
numberofpages:6
journal:NEUROLOGY

المصدر: Epilepsia

مصطلحات الفهرس: Keywords: adolescent; adult; article; Australia; child; chromosome 22q; clinical article; controlled study; electroencephalography; familial disease; female; focal epilepsy; gene locus; gene mapping; genetic variability; genome analysis; human; infant; male; phenot Chromosome 22q12; FFEVF; Focal epilepsy; FPEVF; Genetic epilepsy, Journal article

URL: http://hdl.handle.net/1885/102818

مصطلحات الفهرس: Chromosome 22q12, FFEVF, FPEVF, Focal epilepsy, Genetic epilepsy, Journal Article

URL: http://hdl.handle.net/11343/41354
NHMRC/466671
NHMRC/628952
NHMRC/628952
NHMRC/1006110